PNPLA6 Disorders.
Synofzik M, Hufnagel RB, Züchner S.
2014 Oct 9 [updated 2021 Jun 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
DDX3X-Related Neurodevelopmental Disorder.
Johnson-Kerner B, Snijders Blok L, Suit L, Thomas J, Kleefstra T, Sherr EH.
2020 Aug 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
SOX2 Disorder.
Williamson KA, Yates TM, FitzPatrick DR.
2006 Feb 23 [updated 2020 Jul 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
POLR3-Related Leukodystrophy.
Bernard G, Vanderver A.
2012 Aug 2 [updated 2017 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Cerebrotendinous Xanthomatosis.
Federico A, Gallus GN.
2003 Jul 16 [updated 2024 Nov 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D.
Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46.
Familial spastic paraplegia, mental retardation, and precocious puberty.
Raphaelson MI, Stevens JC, Elders J, Comite F, Theodore WH.
Arch Neurol. 1983 Dec;40(13):809-10. doi: 10.1001/archneur.1983.04050120059008.
Hydrocephalus in children.
Rizvi R, Anjum Q.
J Pak Med Assoc. 2005 Nov;55(11):502-7.
Complicated Muscle-Bone Interactions in Children with Cerebral Palsy.
Modlesky CM, Zhang C.
Curr Osteoporos Rep. 2020 Feb;18(1):47-56. doi: 10.1007/s11914-020-00561-y.
Presentation of central precocious puberty in two patients with Tay-Sachs disease.
Acar S, Arslan N, Paketçi A, Okur TD, Demir K, Böber E, Abacı A.
Hormones (Athens). 2018 Sep;17(3):415-418. doi: 10.1007/s42000-018-0043-3. Epub 2018 Jun 25.
